Cpa6 MGI Mouse Gene Detail - MGI:3045348

Symbol

Cpa6
Name

carboxypeptidase A6
Synonyms

9030616D13Rik

Feature Type

protein coding gene
IDs

MGI:3045348
NCBI Gene: 329093
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr1:10394945-10790170 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 2.45 cM
Mapping Data

1 experiment

SNPs within 2kb

10996 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3045348	protein coding gene	Chr1:10366016-10790277 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0015835	protein coding gene	Chr1:7631011-8031522 (-)
A/J	MGP_AJ_G0015817	protein coding gene	Chr1:7659429-8061113 (-)
AKR/J	MGP_AKRJ_G0015776	protein coding gene	Chr1:7534989-7946039 (-)
BALB/cJ	MGP_BALBcJ_G0015773	protein coding gene	Chr1:7388543-7794996 (-)
C3H/HeJ	MGP_C3HHeJ_G0015607	protein coding gene	Chr1:7487567-7876318 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0016227	protein coding gene	Chr1:7949133-8375250 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0013948	protein coding gene	Chr1:6500287-6864636 (-)
CAST/EiJ	MGP_CASTEiJ_G0015187	protein coding gene	Chr1:7671732-8079523 (-)
CBA/J	MGP_CBAJ_G0015580	protein coding gene	Chr1:8158758-8578426 (-)
DBA/2J	MGP_DBA2J_G0015679	protein coding gene	Chr1:7265293-7669394 (-)
FVB/NJ	MGP_FVBNJ_G0015684	protein coding gene	Chr1:7183818-7568633 (-)
LP/J	MGP_LPJ_G0015751	protein coding gene	Chr1:7821181-8233103 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015703	protein coding gene	Chr1:8790820-9204427 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016273	protein coding gene	Chr1:7464459-7868801 (-)
PWK/PhJ	MGP_PWKPhJ_G0014971	protein coding gene	Chr1:7140529-7523592 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0014751	protein coding gene	Chr1:7644516-8037341 (-)
WSB/EiJ	MGP_WSBEiJ_G0015251	protein coding gene	Chr1:7483135-7869765 (-)

Human Ortholog

CPA6, carboxypeptidase A6

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CPA6, carboxypeptidase A6
Synonyms

CPAH, ETL5, FEB11
Links

HGNC:17245

NCBI Gene ID: 57094

neXtProt AC: NX_Q8N4T0

UniProt: Q8N4T0
Chr Location

8q13.2; chr8:67422038-67746378 (-) GRCh38

MGI Vertebrate Homology

Cpa6 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CPA6
Gene Tree

Cpa6

Diseases

2 with human CPA6 associations

				Human Disease	Mouse Models
				familial febrile seizures 11 IDs familial febrile seizures 11 DOID:0111308 OMIM:614418
				familial temporal lobe epilepsy 5 IDs familial temporal lobe epilepsy 5 DOID:0060752 OMIM:614417 ORDO:163717

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
5 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

5
Endonuclease-mediated

2
Targeted

3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

24 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

7
GO References

3

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

770
Tissues

35
cDNA Data

6
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cpa6

ZFIN cpa6

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All Sequences

46
RefSeq

10
UniProt

3
CCDS

CCDS14819.1

Ensembl

ENSMUSG00000042501 (Evidence)
NCBI Gene

329093

			Length	Strain/Species	Flank
genomic	ENSMUSG00000042501	Ensembl Gene Model \| MGI Sequence Detail	395226	C57BL/6J	± kb
transcript	ENSMUST00000035577	Ensembl \| MGI Sequence Detail	1932	Not Applicable
polypeptide	ENSMUSP00000035435	Ensembl \| MGI Sequence Detail	438	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000005800 carboxypeptidase A6

(term hierarchy)
EC

3.4.17.-
InterPro Domains

IPR003146 Carboxypeptidase, activation peptide

IPR036990 Metallocarboxypeptidase-like, propeptide

IPR000834 Peptidase M14, carboxypeptidase A
GlyGen

Q5U901 4 sites

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All nucleic 7

cDNA 6

Primer pair 1

Microarray probesets 2

Summaries

All 23

Developmental Gene Expression 1

Gene Ontology 3

Phenotypes 5
Earliest

J:99338 Fontenele-Neto JD, et al., Identification and distribution of mouse carboxypeptidase A-6. Brain Res Mol Brain Res. 2005 Jun 13;137(1-2):132-42
Latest

J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

TSS for Cpa6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr10969	Chr1:10790123-10790164 (-)	26 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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